Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region

DNA Cell Biol. 2012 Apr;31(4):427-33. doi: 10.1089/dna.2011.1391. Epub 2011 Nov 4.

Abstract

Mutations in the untranslated regulatory regions of genes may result in abnormal gene expression or transcriptional regulation. In this study, we characterize the ornithine transcarbamylase (OTC) mRNA isoforms of the X-linked OTC gene involved in the urea formation in the liver. Our data revealed that two major transcripts (OTC-t1 and OTC-t2) are more highly expressed than any of the other isoforms in all the tissues analyzed, though a longer transcript (OTC-t3) was also isolated and characterized from the brain sample. The OTC-t2 sequence fully matches the OTC mRNA reference sequence (NM_000531.5). All three isoforms use a canonical AAUAAA hexamer that is predicted to fold into a hairpin secondary structure which might be exposed to the cleavage and polyadenylation specificity factor. In addition, we observed that the OTC-t1 and OTC-t2 transcripts display heterogeneity at the cleavage sites in a tissue-dependent manner. Taken together, our data demonstrate that several mRNA isoforms are transcribed from the OTC gene, thereby indicating a wide degree of variability in post-transcriptional regulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Base Pairing
  • Base Sequence
  • Brain / metabolism
  • Computational Biology
  • DNA Primers / genetics
  • DNA, Complementary / genetics
  • Expressed Sequence Tags
  • Gene Expression Profiling
  • Gene Expression Regulation, Enzymologic / genetics*
  • Humans
  • Isoenzymes / genetics
  • Liver / metabolism
  • Molecular Sequence Data
  • Mutation / genetics
  • Ornithine Carbamoyltransferase / genetics*
  • RNA, Messenger / genetics*
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA

Substances

  • 3' Untranslated Regions
  • DNA Primers
  • DNA, Complementary
  • Isoenzymes
  • RNA, Messenger
  • Ornithine Carbamoyltransferase